Canonical Allele Identifier: CA395975865

Gene: BBS2

Linked Data

• MyVariant Identifiers: chr16:g.56531696A>T (hg19) ; chr16:g.56497784A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56497784A>T , CM000678.2:g.56497784A>T	GRCh38
NC_000016.9:g.56531696A>T , CM000678.1:g.56531696A>T	GRCh37
NC_000016.8:g.55089197A>T	NCBI36
NG_009312.1:g.27500T>A
NG_009312.2:g.27241T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000561877.2:c.1743T>A	ENSP00000454986.2:n.1743T>A
ENST00000562813.2:n.2580T>A
ENST00000564459.6:n.483T>A
ENST00000565781.6:n.5287T>A
ENST00000565859.2:n.2830T>A
ENST00000566210.2:n.2185T>A
ENST00000566410.2:n.5270T>A
ENST00000566452.2:n.2216T>A
ENST00000566495.2:n.725T>A
ENST00000568104.6:c.1659+653T>A	ENSP00000456289.1:n.1659+653T>A
ENST00000569192.6:n.861T>A
ENST00000618027.2:n.535T>A
ENST00000682000.1:n.1314T>A
ENST00000682001.1:n.2785T>A
ENST00000682005.1:n.1747T>A
ENST00000682038.1:c.*1145T>A	ENSP00000508404.1:n.*1145T>A
ENST00000682047.1:c.1756T>A	ENSP00000507699.1:p.Phe586Ile
ENST00000682088.1:c.*4697T>A	ENSP00000508064.1:n.*4697T>A
ENST00000682096.1:n.4206T>A
ENST00000682113.1:n.3973T>A
ENST00000682146.1:n.2913T>A
ENST00000682187.1:c.*1180T>A	ENSP00000507203.1:n.*1180T>A
ENST00000682188.1:c.1756T>A	ENSP00000507655.1:p.Phe586Ile
ENST00000682201.1:n.1747T>A
ENST00000682205.1:c.1756T>A	ENSP00000508377.1:p.Phe586Ile
ENST00000682348.1:c.*805T>A	ENSP00000506965.1:n.*805T>A
ENST00000682360.1:c.1159T>A	ENSP00000508007.1:p.Phe387Ile
ENST00000682370.1:n.3122T>A
ENST00000682420.1:n.2303T>A
ENST00000682429.1:c.*425T>A	ENSP00000506827.1:n.*425T>A
ENST00000682449.1:c.*507T>A	ENSP00000507836.1:n.*507T>A
ENST00000682470.1:c.1756T>A	ENSP00000507654.1:p.Phe586Ile
ENST00000682473.1:n.1721T>A
ENST00000682482.1:c.1630T>A	ENSP00000507903.1:p.Phe544Ile
ENST00000682492.1:n.1844T>A
ENST00000682493.1:c.*351T>A	ENSP00000506778.1:n.*351T>A
ENST00000682543.1:c.*1180T>A	ENSP00000507592.1:n.*1180T>A
ENST00000682597.1:n.3943T>A
ENST00000682623.1:n.357T>A
ENST00000682658.1:c.*788T>A	ENSP00000507773.1:n.*788T>A
ENST00000682705.1:n.2825T>A
ENST00000682723.1:c.1159T>A	ENSP00000507115.1:p.Phe387Ile
ENST00000682735.1:c.*3424T>A	ENSP00000507007.1:n.*3424T>A
ENST00000682737.1:c.1159T>A	ENSP00000506876.1:p.Phe387Ile
ENST00000682757.1:n.3449T>A
ENST00000682855.1:c.1756T>A	ENSP00000507027.1:p.Phe586Ile
ENST00000682875.1:c.1756T>A	ENSP00000507771.1:p.Phe586Ile
ENST00000682930.1:c.1681T>A	ENSP00000507981.1:p.Phe561Ile
ENST00000682948.1:n.2788T>A
ENST00000682960.1:n.3997T>A
ENST00000683008.1:n.5152T>A
ENST00000683020.1:c.*297T>A	ENSP00000507944.1:n.*297T>A
ENST00000683099.1:n.3122T>A
ENST00000683170.1:n.3481T>A
ENST00000683212.1:c.*297T>A	ENSP00000507839.1:n.*297T>A
ENST00000683248.1:n.3714T>A
ENST00000683343.1:n.2610T>A
ENST00000683347.1:n.1963T>A
ENST00000683384.1:c.1777T>A	ENSP00000508330.1:n.1777T>A
ENST00000683396.1:n.4533T>A
ENST00000683410.1:n.2178T>A
ENST00000683443.1:n.1390T>A
ENST00000683485.1:n.4324T>A
ENST00000683504.1:n.7347T>A
ENST00000683533.1:c.*1180T>A	ENSP00000508296.1:n.*1180T>A
ENST00000683609.1:n.3825T>A
ENST00000683644.1:c.*930T>A	ENSP00000507914.1:n.*930T>A
ENST00000683660.1:n.1969T>A
ENST00000683669.1:n.1639T>A
ENST00000683690.1:c.*3208T>A	ENSP00000508152.1:n.*3208T>A
ENST00000683719.1:n.1739T>A
ENST00000683757.1:n.1745T>A
ENST00000683858.1:c.1708T>A	ENSP00000507657.1:p.Phe570Ile
ENST00000683875.1:c.1528T>A	ENSP00000507602.1:p.Phe510Ile
ENST00000683904.1:n.4061T>A
ENST00000683910.1:n.4451T>A
ENST00000683959.1:c.*805T>A	ENSP00000508309.1:n.*805T>A
ENST00000683976.1:c.*1305T>A	ENSP00000507183.1:n.*1305T>A
ENST00000683978.1:n.1899T>A
ENST00000683992.1:c.*1396T>A	ENSP00000508144.1:n.*1396T>A
ENST00000684020.1:n.2178T>A
ENST00000684044.1:n.2744T>A
ENST00000684057.1:n.2674T>A
ENST00000684076.1:n.3136T>A
ENST00000684128.1:n.3324T>A
ENST00000684194.1:n.3387T>A
ENST00000684205.1:n.3435T>A
ENST00000684246.1:c.*1396T>A	ENSP00000508273.1:n.*1396T>A
ENST00000684388.1:c.676T>A	ENSP00000507647.1:p.Phe226Ile
ENST00000684402.1:n.2997T>A
ENST00000684446.1:n.3240T>A
ENST00000684531.1:n.3198T>A
ENST00000684635.1:c.1651T>A	ENSP00000507335.1:p.Phe551Ile
ENST00000684640.1:c.1718T>A	ENSP00000507292.1:n.1718T>A
ENST00000684673.1:c.*351T>A	ENSP00000507746.1:n.*351T>A
ENST00000684684.1:c.*1008T>A	ENSP00000507026.1:n.*1008T>A
ENST00000245157.11:c.1756T>A MANE Select	ENSP00000245157.5:p.Phe586Ile
ENST00000245157.9:c.1756T>A	ENSP00000245157.5:p.Phe586Ile
ENST00000561877.1:c.580T>A
ENST00000562813.1:n.2580T>A
ENST00000564459.5:c.19T>A	ENSP00000463731.1:p.Phe7Ile
ENST00000565781.5:n.5287T>A
ENST00000566495.1:n.725T>A
ENST00000568104.5:c.1659+653T>A	ENSP00000456289.1:n.1659+653T>A
ENST00000569192.5:n.430T>A
NM_031885.3:c.1756T>A	NP_114091.3:p.Phe586Ile
XM_005256080.1:c.1756T>A	XP_005256137.1:p.Phe586Ile
XR_933378.1:n.1817T>A
XM_005256080.2:c.1756T>A	XP_005256137.1:p.Phe586Ile
XR_001751958.1:n.2117T>A
XR_001751959.2:n.2114T>A
XR_001751960.1:n.1817T>A
XR_001751961.1:n.1817T>A
XR_933380.2:n.1945T>A
NM_031885.4:c.1756T>A	NP_114091.3:p.Phe586Ile
NM_001377456.1:c.1756T>A	NP_001364385.1:p.Phe586Ile
NM_031885.5:c.1756T>A MANE Select	NP_114091.4:p.Phe586Ile
NR_165293.1:n.2046T>A
NR_165294.1:n.2043T>A
NR_165295.1:n.1874T>A
NR_165296.1:n.1746T>A
NR_165297.1:n.1746T>A